{"orpha":53372,"name":"Hereditary geniospasm","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary chin myoclonus","Hereditary chin-trembling","Familial trembling of the chin"],"definition":"A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may present more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-53372/","orphanet_url":"https://www.orpha.net/en/disease/detail/53372","names":{"fr":{"name":"Géniospasme héréditaire","synonyms":["Tremblement familial du menton","Tremblement héréditaire du menton"],"definition":"Tremblement génétique rare caractérisé par des épisodes récurrents de tremblements involontaires du menton et de la lèvre inférieure dus à une myoclonie isolée du muscle mentonnier. Certains patients peuvent présenter des symptômes plus sévères, tels qu'une détresse psychologique et des morsures de langue. Aucune anomalie neurologique n'est associée, mais des troubles du sommeil et l'atteinte d'autres muscles du visage ont été décrits. Des cas sporadiques ont également été rapportés."},"de":{"name":"Geniospasmus, hereditärer","synonyms":["Familiäres Zittern des Kinns","Kinn-Myoklonus, hereditärer"],"definition":"Eine hereditäre Tremorerkrankung, die durch wiederkehrende Episoden eines unwillkürlichen Zitterns des Kinns und der Unterlippe aufgrund eines isolierten Myoklonus des Mentalis-Muskels gekennzeichnet ist. Die Patienten können sich mit schwerwiegenderen Symptomen wie Zungenbeißen und psychischen Beeinträchtigungen vorstellen. Auch wenn keine neurologischen Anomalien vorliegen, wurden gelegentlich Schlafstörungen und die Beteiligung anderer Gesichtsmuskeln beschrieben. Sporadische Fälle wurden ebenfalls berichtet."},"es":{"name":"Geniospasmo o espasmo mandibular","definition":"Es un trastorno tremórico poco frecuente de base genética caracterizado por episodios recurrentes de temblor involuntario del mentón y del labio inferior debido a mioclonías aisladas del músculo mentoniano. Los pacientes pueden presentar síntomas más graves, lengua mordida y angustia psicológica. Aunque no se asocian alteraciones neurológicas, se ha descrito trastornos del sueño y afectación ocasional de otros músculos faciales. También se han descrito casos esporádicos."},"it":{"name":"Geniospasmo"},"nl":{"name":"Erfelijk geniospasme","synonyms":["Erfelijk kinbeven","Erfelijke myoclonus van kin","Familiale tremor van kin"],"definition":"Een zeldzame genetische aandoening met tremor, gekenmerkt door terugkerende episodes van onvrijwillige tremor van de kin en onderlip door geïsoleerde myoclonus van musculus mentalis (kinspier). Patiënten kunnen ernstigere symptomen vertonen, zoals tongbijten en psychische nood. Hoewel geen neurologische afwijkingen zijn geassocieerd, werden occasioneel slaapstoornissen en betrokkenheid van andere aangezichtsspieren beschreven. Er werden ook sporadische gevallen gerapporteerd."},"pt":{"name":"Geniospasmo hereditário","definition":"Distúrbio de tremor raro de causa genética caracterizado por episódios recorrentes de tremor involuntário do queixo e lábio inferior devido a mioclonia isolada do músculo mentual. Os doentes podem apresentar sintomas mais graves, como mordedura da língua e sofrimento psicológico. Embora anomalias neurológicas não estejam associadas, o envolvimento ocasional de distúrbios do sono e outros músculos faciais foram descritos. Casos esporádicos também foram relatados."},"pl":{"name":"Dziedziczne drżenie mięśnia bródkowego","synonyms":["Dziedziczne drżenie brody","Dziedziczny mioklonus brody","Rodzinne drżenie brody"],"definition":"Rzadkie genetyczne zaburzenie z drżeniem, które charakteryzuje się nawracającymi epizodami mimowolnego drżenia brody i dolnej wargi wskutek izolowanych mioklonii mięśnia bródkowego. U pacjentów mogą występować poważniejsze objawy, takie jak przygryzanie języka i stres psychologiczny. Chociaż nie występują nieprawidłowości neurologiczne, opisano sporadyczne występowanie zaburzeń snu i dysfunkcja innych mięśni twarzy. Zgłaszano również sporadyczne występowanie tego zaburzenia."},"cs":{"name":"Hereditární geniospasmus","synonyms":["Familiární třes brady","Dědičný myoklonus brady","Dědičný třes brady"]},"uk":{"name":"Спадковий геніоспазм","synonyms":["Сімейне тремтіння підборіддя","Спадковий міоклонус підборіддя","Спадкове тремтіння підборіддя"],"definition":"A rare genetic tremor disorder characterized by recurrent episodes of involuntary tremor of the chin and lower lip due to isolated myoclonus of the mentalis muscle. Patients may represent more severe symptoms such as tongue biting and psychological distress. Even though neurological abnormalities are not associated, occasional involvement of sleep disorders and other facial muscles have been described. Sporadic cases were also reported."},"zh":{"name":"遗传性颏痉挛","synonyms":["遗传性颏震颤"]},"tr":{"name":"Kalıtsal geniospazm","synonyms":["Kalıtsal çene miyoklonusu","Kalıtsal çene titremesi","Ailesel çene titremesi"]}},"xrefs":[{"source":"OMIM","code":"190100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G25.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0008588","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537682","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2931589","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9501","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":307061,"name":"Rare genetic tremor disorder","classifications":[156]},{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-09-07","source":"25829069[PMID]_26388646[PMID]_27117562[PMID]","terms":[{"hpo":"HP:0012462","label":"Chin myoclonus","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:3000007","label":"Abnormality of mentalis muscle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000178","label":"Abnormality of lower lip","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Excluded (0%)","criteria":null}]}}